Associated Papers
Characterization of Novel Variants in P2YRY12, GP6 and TBXAS1 in Patients with Lifelong History of Bleeding.
Zamora-Cánovas A et al.
Biomolecules, 2025
41463295 (PubMed )
Supplement: biomolecules-15-01639-s001.zip › biomolecules-3972089-supplementary.pdf
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
36418292 (PubMed )
Supplement: 41467_2022_34689_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_5.xlsx › Sheet1
D121 Located within the DRY Motif of P2Y12 Is Essential for P2Y12-Mediated Platelet Function.
Dangelmaier C et al.
International Journal of Molecular Sciences, 2022
Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.
Nurden P et al.
Haematologica, 2021
Strengths and Weaknesses of Light Transmission Aggregometry in Diagnosing Hereditary Platelet Function Disorders.
Alessi MC et al.
Journal of Clinical Medicine, 2020
Genetic variants affecting equivalent protein family positions reflect human diversity.
Raimondi F et al.
Scientific Reports, 2017
P2Y₁₂ receptor gene mutations associated with bleeding.
Scavone M et al.
Platelets, 2017
Inherited dysfunctional platelet P2Y12 receptor mutations associated with bleeding disorders.
Lecchi A et al.
Hamostaseologie, 2016
Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.
Leo VC et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors.
Jones ML et al.
Thrombosis and Haemostasis, 2015
Phenotypic regulation of the sphingosine 1-phosphate receptor miles apart by G protein-coupled receptor kinase 2.
Burczyk M et al.
Biochemistry, 2015
A novel mutation in the P2Y12 receptor and a function-reducing polymorphism in protease-activated receptor 1 in a patient with chronic bleeding.
Patel YM et al.
Journal of Thrombosis and Haemostasis : Jth, 2014
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